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Seplyarskiy VB, Soldatov RA, Koch E, et al. "Population sequencing data reveal a compendium of mutational processes in the human germ line." Science. 2021;373(6558):1030-1035.
Taliun D, Harris DN, Kessler MD, et al. "Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program." Nature. 2021;590(7845):290-299.
Chen J, Spracklen CN, Marenne G, et al. "The trans-ancestral genomic architecture of glycemic traits." Nat Genet. 2021;53(6):840-860.
Kessler MD, Loesch DP, Perry JA, et al. "De novo mutations across 1,465 diverse genomes reveal mutational insights and reductions in the Amish founder population." Proc Natl Acad Sci U S A. 2020;117(5):2560-2569.
Bick AG, Weinstock JS, Nandakumar SK, et al. "Inherited causes of clonal haematopoiesis in 97,691 whole genomes." Nature. 2020;586(7831):763-768.
Gorski M, van der Most PJ, Teumer A, et al. "1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function." Sci Rep. 2017;7:45040.
Liu X, Li C. "The performance of deleteriousness prediction scores for rare non-protein-changing single nucleotide variants in human genes." J Med Genet. 2017;54(2):134-144.
Morrison AC, Huang Z, Yu B, et al. "Practical Approaches for Whole-Genome Sequence Analysis of Heart- and Blood-Related Traits." Am J Hum Genet. 2017;100(2):205-215.
Marouli E, Graff M, Medina-Gomez C, et al. "Rare and low-frequency coding variants alter human adult height." Nature. 2017;542(7640):186-190.
Huang Z, Rustagi N, Veeraraghavan N, et al. "A hybrid computational strategy to address WGS variant analysis in >5000 samples." BMC Bioinformatics. 2016;17(1):361.
Liu C, Kraja AT, Smith JA, et al. "Meta-analysis identifies common and rare variants influencing blood pressure and overlapping with metabolic trait loci." Nat Genet. 2016;48(10):1162-70.
van Leeuwen EM, Sabo A, Bis JC, et al. "Meta-analysis of 49 549 individuals imputed with the 1000 Genomes Project reveals an exonic damaging variant in ANGPTL4 determining fasting TG levels." J Med Genet. 2016;53(7):441-9.
Liu X, White S, Peng B, et al. "WGSA: an annotation pipeline for human genome sequencing studies." J Med Genet. 2016;53(2):111-2.
Yu B, de Vries PS, Metcalf GA, et al. "Whole genome sequence analysis of serum amino acid levels." Genome Biol. 2016;17(1):237.
Amendola LM, Dorschner MO, Robertson PD, et al. "Actionable exomic incidental findings in 6503 participants: challenges of variant classification." Genome Res. 2015;25(3):305-15.
Li AH, Morrison AC, Kovar C, et al. "Analysis of loss-of-function variants and 20 risk factor phenotypes in 8,554 individuals identifies loci influencing chronic disease." Nat Genet. 2015;47(6):640-2.
Dong C, Wei P, Jian X, Gibbs R, Boerwinkle E, Wang K. "Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies." Hum Mol Genet. 2015;24(8):2125-37.
Nikpay M, Goel A, Won H-H, et al. "A comprehensive 1,000 Genomes-based genome-wide association meta-analysis of coronary artery disease." Nat Genet. 2015;47(10):1121-1130.
Salfati E, Morrison AC, Boerwinkle E. "Direct Estimates of the Genomic Contributions to Blood Pressure Heritability within a Population-Based Cohort (ARIC)." PLoS One. 2015;10(7):e0133031.
Joshi PK, Esko T, Mattsson H, et al. "Directional dominance on stature and cognition in diverse human populations." Nature. 2015;523(7561):459-462.
Sitlani CM, Rice KM, Lumley T, et al. "Generalized estimating equations for genome-wide association studies using longitudinal phenotype data." Stat Med. 2015;34(1):118-30.
Shungin D, Winkler TW, Croteau-Chonka DC, et al. "New genetic loci link adipose and insulin biology to body fat distribution." Nature. 2015;518(7538):187-196.
Yazdani A, Yazdani A. "Rare variants analysis using penalization methods for whole genome sequence data." BMC Bioinformatics. 2015;16:405.
Gong J, Schumacher F, Lim U, et al. "Fine Mapping and Identification of BMI Loci in African Americans." Am J Hum Genet. 2013;93(4):661-71.
Duan Q, Liu EYi, Auer PL, et al. "Imputation of coding variants in African Americans: better performance using data from the exome sequencing project." Bioinformatics. 2013;29(21):2744-9.
Taylor KC, Carty CL, Dumitrescu L, et al. "Investigation of gene-by-sex interactions for lipid traits in diverse populations from the population architecture using genomics and epidemiology study." BMC Genet. 2013;14:33.
Evans DM, Brion MJo A, Paternoster L, et al. "Mining the human phenome using allelic scores that index biological intermediates." PLoS Genet. 2013;9(10):e1003919.
Morrison AC, Voorman A, Johnson AD, et al. "Whole-genome sequence-based analysis of high-density lipoprotein cholesterol." Nat Genet. 2013;45(8):899-901.
Chanda P, Yuhki N, Li M, et al. "Comprehensive evaluation of imputation performance in African Americans." J Hum Genet. 2012;57(7):411-21.
Tennessen JA, Bigham AW, O'Connor TD, et al. "Evolution and functional impact of rare coding variation from deep sequencing of human exomes." Science. 2012;337(6090):64-9.
J Smith G, Avery CL, Evans DS, et al. "Impact of ancestry and common genetic variants on QT interval in African Americans." Circ Cardiovasc Genet. 2012;5(6):647-55.
Chiang CWK, Liu C-T, Lettre G, et al. "Ultraconserved elements in the human genome: association and transmission analyses of highly constrained single-nucleotide polymorphisms." Genetics. 2012;192(1):253-66.
Ganesh SK, Zakai NA, van Rooij FJA, et al. "Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium." Nat Genet. 2009;41(11):1191-8.